ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.106G>C (p.Asp36His)

gnomAD frequency: 0.00505  dbSNP: rs61747482
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000122245 SCV000303878 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373195 SCV000389121 likely benign Hypothyroidism due to TSH receptor mutations 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000259846 SCV000389122 likely benign Familial hyperthyroidism due to mutations in TSH receptor 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Eurofins Ntd Llc (ga) RCV000122245 SCV000708099 benign not specified 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV000870612 SCV001012131 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000870612 SCV002822151 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing TSHR: BP4, BS2
OMIM RCV000006799 SCV000026995 benign THYROTROPIN RECEPTOR POLYMORPHISM 1999-01-01 no assertion criteria provided literature only
ITMI RCV000122245 SCV000086469 not provided not specified 2013-09-19 no assertion provided reference population

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